rs397514452

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs397514452(A;A)

Make rs397514452(A;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

74670258

Gene

ADK

is a	snp
is	mentioned by
dbSNP	rs397514452
dbSNP (classic)	rs397514452
ClinGen	rs397514452
ebi	rs397514452
HLI	rs397514452
Exac	rs397514452
Gnomad	rs397514452
Varsome	rs397514452
LitVar	rs397514452
Map	rs397514452
PheGenI	rs397514452
Biobank	rs397514452
1000 genomes	rs397514452
hgdp	rs397514452
ensembl	rs397514452
geneview	rs397514452
scholar	rs397514452
google	rs397514452
pharmgkb	rs397514452
gwascentral	rs397514452
openSNP	rs397514452
23andMe	rs397514452
SNPshot	rs397514452
SNPdbe	rs397514452
MSV3d	rs397514452
GWAS Ctlg	rs397514452

Max Magnitude

0

ClinVar
Risk	rs397514452(A;A)
Alt	rs397514452(A;A)
Reference	Rs397514452(C;C)
Significance	Pathogenic
Disease	Hypermethioninemia due to adenosine kinase deficiency
Variation	info
Gene	ADK
CLNDBN	Hypermethioninemia due to adenosine kinase deficiency
Reversed	0
HGVS	NC_000010.10:g.76430016C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022443.29,